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| Sudden death in young people v1.10 | PPP1R13L | Ellen McDonagh commented on gene: PPP1R13L: This gene is not currently associated with a disease in OMIM or Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sudden death in young people v1.10 | PPP1R13L |
Ellen McDonagh gene: PPP1R13L was added gene: PPP1R13L was added to Sudden death in young people. Sources: Literature watchlist tags were added to gene: PPP1R13L. Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R13L were set to 28069640; 25691752; 19016676 Phenotypes for gene: PPP1R13L were set to cardio-cutaneous syndrome; sudden cardiac death Added comment: PMID: 28069640 describes a large extended family pedigree, with 5 affected infants with Dilated cardiomyopathy who all died before the age of 3. A SNP predicted to cause a premature termination codon was identified c.2241C > G, p.Tyr747Ter in 3 affected patients as homozygous status and heterozygous in the patients. Sequencing was unavailable for two affected sisters. Sources: Literature |
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